Hair changes in congenital disorders of glycosylation (CDG type 1)

European Journal of Pediatrics

Volumn 162, Issue 2, 2003, Pages 114-115

  Silengo, Margherita ^a   Valenzise, Mariella ^a   Pagliardini, Severo ^b   Spada, Marco ^a  

^a UNIVERSITY OF TURIN   (Italy)

^b REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANTITHROMBIN III; BLOOD CLOTTING FACTOR 11; GLYCOPROTEIN; PROTEIN C; TRANSFERRIN;

AGE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLEEDING; BLOOD CLOTTING; BLOOD LEVEL; CASE REPORT; CEREBELLUM HYPOPLASIA; CLINICAL FEATURE; CLINICAL TRIAL; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL MALFORMATION; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CYTOLYSIS; DISEASE SEVERITY; FACIES; GENETIC DISORDER; HAIR; HAIR ANALYSIS; HUMAN; HYPOPLASIA; INFANT; MUSCLE HYPOTONIA; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN SYNTHESIS; SEIZURE; STRABISMUS;

EID: 0037326162     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-002-1054-1     Document Type: Article

References (11)

1. Bodemer C, Rotig A, Rustin P, Cormier V, Niaudet P, Saudubray JM, Rabier D, Munnich A, de Prost Y (1999) Hair and skin disorders as signs of mitochondrial disease. Pediatrics 103: 428-433
2. De Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schimtz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V (2001) A broad spectrum of clinical presentation in congenital disorders of glycosylation I: a series of 26 patients. J Med Genet 38: 14-19
3. Jaeken J, Matthijs G (2001) Congenital disorders of glycosylation. Annu Rev Genomics Hum Genet 2: 129-151
4. Jaeken J, Schacheter H, Carchon H, De Cock P, Coddeville B, Spik G (1994) Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetylglucosaminyl-transferase II. Arch Dis Child 71: 123-127
5. Kvedar JC, Baden HP, Baden LA, Shih VE, Kolodny EH (1991) Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency. Am J Med Genet 40: 211-213
6. Menkes JH (1988) Kinky hair disease: twenty five years later. Brain Dev 10: 77-79
7. OMIM http://www.ncbi.nlm.gov/omim
8. Price VH, Odom RB, Ward WH, Jones FT (1980) Trichothiodystrophy. Sulfur deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch Dermatol 116: 1375-1384
9. Priolo M, Silengo M, Lerone M, Ravazzolo R (2000) Ectodermal dysplasias: not only "skin" deep. Clin Genet 58: 415-430
10. Wolf B, Grier RE, Secor McVoy JR, Heard GS (1985) Biotinidase deficiency: a novel vitamin recycling defect. J Inherit Metab Dis 8[Suppl 1]: 53-58
11. Valenzise M, Jarre L, Sorasio L, Ferrero GB, Silengo M (2002) Le anomalie dei capelli come segno di malattia mitocondriale. Atti 58 Congresso Nazionale Societa' Italiana di Pediatria Montecatini Terme 28 Settembre-2 Ottobre 2002